Sugi Variant

Sugi Variant/SF3B2

SF3B2 — 115 ClinVar variants

All ClinVar germline SF3B2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 85 flagged for review →

5 Pathogenic · 2 Likely pathogenic · 1 Benign · 13 Likely benign · 94 Uncertain significance

Full SF3B2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 85

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors lean, ClinVar uncertain 69

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 16

The independent predictors disagree with each other — read with care.

All SF3B2 variants

Pathogenic 5

  • c.180+2T>C Single submitter craniofacial microsomia 1
  • p.Arg222Ter Single submitter craniofacial microsomia 1
  • c.1780-2del No assertion criteria craniofacial microsomia 1
  • p.Arg638Ter No assertion criteria craniofacial microsomia 1
  • p.Met1Leu No assertion criteria craniofacial microsomia 1

Likely pathogenic 2

  • p.Glu701fs Single submitter craniofacial microsomia 1
  • p.Glu370Ter No assertion criteria craniofacial microsomia 1

Benign 1

Likely benign 13

Uncertain significance 94